Study timeline and research activities overview.

Pacific Islanders, including those in American Samoa, face a disproportionately high burden of gestational diabetes mellitus (GDM) and related sequalae of metabolic conditions. The CREBRF rs373863828 genetic variant, which is uniquely common among Pacific Islanders, has been paradoxically associated with higher body mass index (BMI) but lower risk of type 2 diabetes. While emerging evidence suggests this variant may influence both maternal metabolic outcomes and infant growth, studies in pregnancy and early life remain limited. The purpose of this paper is to describe the protocol for a study designed to address these gaps. The Health Outcomes in Pregnancy and Early Childhood (HOPE) Study is an observational, longitudinal cohort study that will enroll up to 180 Samoan pregnant women and their infants (target n = 150 dyads completing study protocols) in American Samoa, with follow-up through six months postpartum/postnatal. The study includes questionnaires, anthropometric measurements, and biospecimen collection. Genetic and epigenetic analyses will examine associations between maternal and infant CREBRF rs373863828 genotype, gestational diabetes status, infant body size, and cord blood DNA methylation. The study is approved by the Institutional Review Boards at the University of Pittsburgh, Yale University, and the American Samoa Department of Health, as well as the Lyndon B. Johnson Tropical Medical Center (American Samoa) Research Oversight Committee. Findings will be disseminated through peer-reviewed publications, conference presentations, and community reports.包括美属萨摩亚在内的太平洋岛民，承受着远超平均水平的妊娠糖尿病（gestational diabetes mellitus，GDM）及相关代谢疾病后遗症负担。CREBRF rs373863828基因变异在太平洋岛民中尤为常见，该变异却与更高的身体质量指数（body mass index，BMI）呈正相关，但同时与更低的2型糖尿病患病风险相关，关联逻辑存在矛盾。尽管新兴研究表明，该变异可能同时影响母体代谢结局与婴儿生长发育，但针对妊娠及早期生命阶段的相关研究仍较为匮乏。本文旨在阐述一项旨在填补上述研究空白的研究方案。妊娠与儿童早期健康结局研究（Health Outcomes in Pregnancy and Early Childhood，HOPE）为一项观察性纵向队列研究，计划在美属萨摩亚招募至多180名萨摩亚籍孕妇及其婴儿（目标完成研究方案的母婴对为150对），并将随访至产后6个月。本研究涵盖问卷调查、人体测量学指标检测以及生物样本采集。本研究将通过遗传与表观遗传学分析，探究母婴的CREBRF rs373863828基因型、妊娠糖尿病患病状态、婴儿体格大小与脐带血DNA甲基化水平之间的关联。本研究已获得匹兹堡大学（University of Pittsburgh）、耶鲁大学（Yale University）、美属萨摩亚卫生部（American Samoa Department of Health）以及林登·B·约翰逊热带医疗中心（Lyndon B. Johnson Tropical Medical Center，American Samoa）研究监督委员会的伦理审查批准。本研究结果将通过同行评议期刊论文、学术会议报告以及社区报告进行传播推广。